Variant report

Variant	rs13261245
Chromosome Location	chr8:96212433-96212434
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr8:96212390-96213374	MCF-7	breast:	n/a	n/a
2	NR2F2	chr8:96212423-96213207	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:96212339-96213258	MCF-7	breast:	n/a	n/a
4	GATA1	chr8:96211419-96212574	K562	blood:	n/a	chr8:96212138-96212148

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96210411..96213768-chr8:96214869..96218158,4	K562	blood:
2	chr8:96145520..96147593-chr8:96211677..96214625,3	MCF-7	breast:
3	chr8:96210411..96214534-chr8:96214869..96218158,4	K562	blood:
4	chr8:96212357..96216108-chr8:96221721..96225402,5	MCF-7	breast:
5	chr8:96097880..96099872-chr8:96212042..96213834,2	MCF-7	breast:
6	chr8:96205463..96207920-chr8:96210246..96213783,6	MCF-7	breast:
7	chr8:96210702..96213000-chr8:96259520..96261197,2	MCF-7	breast:
8	chr8:96205065..96207467-chr8:96211843..96213815,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11987379	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11987491	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13250256	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13253679	0.92[EUR][1000 genomes]
rs13257907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259025	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13260846	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13270120	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297571	1.00[CHB][hapmap]
rs4236832	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs4734300	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67235598	0.88[EUR][1000 genomes]
rs7012668	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs734666	1.00[CEU][hapmap];0.85[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7825383	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830669	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96205000-96213400	Weak transcription	Lung	lung
2	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
3	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:96207400-96212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:96208600-96216400	Weak transcription	Gastric	stomach
6	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
7	chr8:96210200-96212600	Weak transcription	Pancreas	Pancrea
8	chr8:96210200-96214600	Enhancers	Hela-S3	cervix
9	chr8:96210400-96212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:96210400-96212600	Weak transcription	Esophagus	oesophagus
11	chr8:96210800-96212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:96210800-96212600	Weak transcription	A549	lung
13	chr8:96210800-96214000	Weak transcription	Placenta	Placenta
14	chr8:96211000-96212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:96211200-96212600	Weak transcription	NHEK	skin
16	chr8:96211400-96212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:96211800-96214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:96212000-96212800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:96212000-96212800	Enhancers	Stomach Mucosa	stomach
20	chr8:96212000-96218000	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:96212400-96212600	Enhancers	Right Atrium	heart
22	chr8:96212400-96212800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:96212400-96213000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:96212400-96213200	Enhancers	Primary B cells from cord blood	blood
25	chr8:96212400-96213200	Enhancers	Liver	Liver
26	chr8:96212400-96214000	Flanking Active TSS	HepG2	liver
27	chr8:96212400-96214200	Enhancers	HMEC	breast
28	chr8:96212400-96214600	Enhancers	K562	blood
29	chr8:96212400-96217000	Enhancers	Fetal Thymus	thymus

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